Mutagenetix > Incidental Mutation

Incidental Mutation 'R1458:Insig2'

161840

Institutional Source

Beutler Lab

Gene Symbol

Insig2

Ensembl Gene

ENSMUSG00000003721

Gene Name

insulin induced gene 2

Synonyms

C730043J18Rik, Insig-2, 2900053I11Rik

MMRRC Submission

039513-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

R1458 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121232082-121260318 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121234885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 174 (Y174H)

Ref Sequence

ENSEMBL: ENSMUSP00000123747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003818] [ENSMUST00000071064] [ENSMUST00000159085] [ENSMUST00000160688] [ENSMUST00000160968] [ENSMUST00000186915] [ENSMUST00000162790] [ENSMUST00000162582]

AlphaFold

Q91WG1

Predicted Effect

probably benign
Transcript: ENSMUST00000003818
AA Change: Y174H

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000003818
Gene: ENSMUSG00000003721
AA Change: Y174H

Domain	Start	End	E-Value	Type
Pfam:INSIG	28	211	9.2e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071064
AA Change: Y174H

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000065485
Gene: ENSMUSG00000003721
AA Change: Y174H

Domain	Start	End	E-Value	Type
Pfam:INSIG	28	211	9.2e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159085
AA Change: Y174H

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000124345
Gene: ENSMUSG00000003721
AA Change: Y174H

Domain	Start	End	E-Value	Type
Pfam:INSIG	28	211	9.2e-79	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159192

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159528

Predicted Effect

probably benign
Transcript: ENSMUST00000160688

SMART Domains

Protein: ENSMUSP00000123702
Gene: ENSMUSG00000003721

Domain	Start	End	E-Value	Type
Pfam:INSIG	28	76	7.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160968
AA Change: Y174H

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000123747
Gene: ENSMUSG00000003721
AA Change: Y174H

Domain	Start	End	E-Value	Type
Pfam:INSIG	30	211	7.7e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186915
AA Change: Y66H

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000140292
Gene: ENSMUSG00000003721
AA Change: Y66H

Domain	Start	End	E-Value	Type
Pfam:INSIG	1	103	1.1e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162019

Predicted Effect

probably benign
Transcript: ENSMUST00000162790

SMART Domains

Protein: ENSMUSP00000124697
Gene: ENSMUSG00000003721

Domain	Start	End	E-Value	Type
Pfam:INSIG	28	146	1.3e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162582

SMART Domains

Protein: ENSMUSP00000125046
Gene: ENSMUSG00000003721

Domain	Start	End	E-Value	Type
Pfam:INSIG	28	85	1.3e-18	PFAM

Meta Mutation Damage Score

0.2577

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

98% (95/97)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to the protein product encoded by gene INSIG1. Both INSIG1 protein and this protein are endoplasmic reticulum proteins that block the processing of sterol regulatory element binding proteins (SREBPs) by binding to SREBP cleavage-activating protein (SCAP), and thus prevent SCAP from escorting SREBPs to the Golgi. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700036A12Rik	A	G	9: 60,677,043 (GRCm39)		noncoding transcript	Het
A430110L20Rik	T	A	1: 181,055,423 (GRCm39)		noncoding transcript	Het
Abce1	T	C	8: 80,433,864 (GRCm39)	K63R	possibly damaging	Het
Acp6	A	G	3: 97,081,104 (GRCm39)		probably benign	Het
Adamts13	T	A	2: 26,878,366 (GRCm39)	L579Q	probably damaging	Het
Adamtsl3	T	A	7: 82,172,528 (GRCm39)	M497K	probably damaging	Het
Adgrb2	T	A	4: 129,908,384 (GRCm39)	M1042K	possibly damaging	Het
Akap12	A	T	10: 4,303,693 (GRCm39)	S168C	probably damaging	Het
Akap3	A	T	6: 126,842,517 (GRCm39)	M379L	probably damaging	Het
Aldh6a1	C	T	12: 84,486,437 (GRCm39)	M135I	probably null	Het
Arhgef12	A	G	9: 42,900,294 (GRCm39)	S860P	probably damaging	Het
Atp11b	A	C	3: 35,843,707 (GRCm39)	T185P	probably damaging	Het
Bcas1	T	C	2: 170,229,871 (GRCm39)	D243G	probably damaging	Het
Cdhr2	T	A	13: 54,865,685 (GRCm39)	S228T	probably damaging	Het
Cic	T	C	7: 24,979,162 (GRCm39)		probably benign	Het
Cimap1d	A	T	10: 79,481,392 (GRCm39)		probably benign	Het
Cmya5	T	A	13: 93,201,835 (GRCm39)	I3376L	probably benign	Het
Ctrc	C	A	4: 141,573,535 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,404,451 (GRCm39)	P2697Q	probably damaging	Het
Dmbt1	A	G	7: 130,646,217 (GRCm39)		probably benign	Het
Drd2	G	A	9: 49,313,512 (GRCm39)	R227H	probably damaging	Het
Dscc1	C	A	15: 54,950,160 (GRCm39)	C195F	probably damaging	Het
Dzip1	T	A	14: 119,160,125 (GRCm39)	M28L	probably benign	Het
Edar	A	T	10: 58,443,188 (GRCm39)	S313T	probably benign	Het
Eef1e1	C	A	13: 38,840,099 (GRCm39)	A69S	probably damaging	Het
Fbn1	A	G	2: 125,143,849 (GRCm39)	V2760A	probably benign	Het
Fez1	GACAAACA	GACA	9: 36,781,845 (GRCm39)		probably null	Het
Fgl1	C	G	8: 41,663,496 (GRCm39)	A11P	possibly damaging	Het
Fras1	T	C	5: 96,748,592 (GRCm39)	V689A	probably benign	Het
Fry	T	A	5: 150,304,324 (GRCm39)	D571E	probably damaging	Het
Gm11232	T	A	4: 71,675,450 (GRCm39)	R104*	probably null	Het
Gm1527	A	G	3: 28,972,199 (GRCm39)	I439V	possibly damaging	Het
Gm4922	C	A	10: 18,659,640 (GRCm39)	G361*	probably null	Het
Gm7052	T	A	17: 22,259,447 (GRCm39)		probably benign	Het
Gpatch8	A	T	11: 102,372,055 (GRCm39)	S494R	unknown	Het
Gria2	A	T	3: 80,639,352 (GRCm39)	V220E	possibly damaging	Het
Grik4	G	A	9: 42,432,418 (GRCm39)	H860Y	probably benign	Het
Gtpbp1	A	C	15: 79,591,930 (GRCm39)	S93R	probably damaging	Het
Gucy2g	C	A	19: 55,203,468 (GRCm39)		probably benign	Het
H2ac8	C	A	13: 23,755,221 (GRCm39)		probably benign	Het
Hmcn1	G	A	1: 150,485,451 (GRCm39)	R4384C	probably damaging	Het
Hspa12b	G	C	2: 130,987,112 (GRCm39)	A678P	probably damaging	Het
Igsf21	T	A	4: 139,755,435 (GRCm39)	N407Y	probably damaging	Het
Itpr3	T	A	17: 27,337,346 (GRCm39)	M2413K	probably benign	Het
Kalrn	A	T	16: 33,994,857 (GRCm39)	I1322N	probably damaging	Het
Klk1b24	T	A	7: 43,840,890 (GRCm39)	M106K	possibly damaging	Het
Krt81	G	T	15: 101,358,198 (GRCm39)	Q352K	probably benign	Het
Lca5l	A	T	16: 95,961,059 (GRCm39)	S468T	possibly damaging	Het
Lvrn	T	C	18: 47,015,452 (GRCm39)		probably benign	Het
Mcpt1	T	A	14: 56,256,621 (GRCm39)		probably benign	Het
Med13l	T	C	5: 118,876,524 (GRCm39)	M900T	probably benign	Het
Med16	A	G	10: 79,743,312 (GRCm39)		probably benign	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mep1a	T	C	17: 43,802,563 (GRCm39)	H154R	probably damaging	Het
Mrc2	A	T	11: 105,228,598 (GRCm39)	D659V	probably benign	Het
Mroh8	T	A	2: 157,063,224 (GRCm39)	E799V	probably damaging	Het
Mrpl21	A	G	19: 3,334,808 (GRCm39)	Y50C	possibly damaging	Het
Msl1	A	G	11: 98,694,808 (GRCm39)		probably benign	Het
Myo1a	C	A	10: 127,555,806 (GRCm39)	Q932K	probably benign	Het
Nav3	A	C	10: 109,555,905 (GRCm39)	S1675R	probably damaging	Het
Neurl2	A	G	2: 164,674,666 (GRCm39)	V232A	possibly damaging	Het
Nfatc1	T	A	18: 80,708,482 (GRCm39)		probably benign	Het
Or2w4	C	T	13: 21,795,992 (GRCm39)	C49Y	probably benign	Het
Or5k8	T	A	16: 58,645,039 (GRCm39)	E11V	probably null	Het
P4hb	A	G	11: 120,453,381 (GRCm39)		probably benign	Het
Papss1	T	G	3: 131,311,615 (GRCm39)	I281S	probably damaging	Het
Pde10a	A	T	17: 9,183,540 (GRCm39)	D832V	probably damaging	Het
Pfkfb2	A	T	1: 130,635,927 (GRCm39)	Y35N	possibly damaging	Het
Phaf1	T	C	8: 105,973,188 (GRCm39)		probably null	Het
Phf20l1	T	A	15: 66,476,662 (GRCm39)	F253Y	probably damaging	Het
Pkhd1l1	G	A	15: 44,379,511 (GRCm39)	V1046I	probably benign	Het
Plin3	C	T	17: 56,591,337 (GRCm39)	A148T	probably benign	Het
Ppp1r8	T	C	4: 132,567,942 (GRCm39)		probably benign	Het
Ppp2r3d	A	G	9: 101,088,511 (GRCm39)	L604P	probably damaging	Het
Prdm5	T	C	6: 65,860,585 (GRCm39)	V239A	probably damaging	Het
Prickle1	A	G	15: 93,398,519 (GRCm39)	S770P	probably damaging	Het
Prl2c5	T	A	13: 13,365,310 (GRCm39)	I155N	probably benign	Het
Prom1	T	C	5: 44,190,274 (GRCm39)		probably benign	Het
Psg25	C	T	7: 18,263,512 (GRCm39)	G104R	probably damaging	Het
Rbm19	T	C	5: 120,282,094 (GRCm39)	V817A	probably benign	Het
Ryr2	T	A	13: 11,741,908 (GRCm39)	Y2091F	probably damaging	Het
Slc16a4	A	G	3: 107,208,248 (GRCm39)	T253A	probably benign	Het
Smg7	A	T	1: 152,731,594 (GRCm39)		probably null	Het
Spink5	C	A	18: 44,140,786 (GRCm39)	H662N	probably benign	Het
Taf2	A	T	15: 54,923,311 (GRCm39)	M322K	probably damaging	Het
Tmc2	T	C	2: 130,090,682 (GRCm39)	F676S	probably damaging	Het
Tmem177	A	G	1: 119,837,915 (GRCm39)	S255P	possibly damaging	Het
Trim46	A	T	3: 89,142,375 (GRCm39)		probably null	Het
Tubb1	T	A	2: 174,292,596 (GRCm39)		probably null	Het
Upf1	T	C	8: 70,796,904 (GRCm39)	T110A	probably benign	Het
Vmn2r9	T	A	5: 108,996,850 (GRCm39)	I140L	probably benign	Het
Zfp638	T	A	6: 83,921,638 (GRCm39)	H588Q	probably damaging	Het
Zfp780b	T	A	7: 27,664,252 (GRCm39)	N101I	probably damaging	Het
Zpld2	T	C	4: 133,924,144 (GRCm39)	D467G	probably benign	Het

Other mutations in Insig2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Insig2	APN	1	121,233,676 (GRCm39)	missense	probably damaging	1.00
IGL03038:Insig2	APN	1	121,247,403 (GRCm39)	missense	probably damaging	1.00
R0037:Insig2	UTSW	1	121,234,649 (GRCm39)	missense	probably damaging	1.00
R4544:Insig2	UTSW	1	121,239,921 (GRCm39)	splice site	probably benign
R5077:Insig2	UTSW	1	121,239,964 (GRCm39)	missense	probably damaging	0.98
R7325:Insig2	UTSW	1	121,234,666 (GRCm39)	missense	possibly damaging	0.82
R7829:Insig2	UTSW	1	121,235,058 (GRCm39)	splice site	probably null
R7839:Insig2	UTSW	1	121,240,049 (GRCm39)	missense	probably benign	0.01
R8340:Insig2	UTSW	1	121,234,946 (GRCm39)	missense	probably damaging	1.00
R9646:Insig2	UTSW	1	121,240,040 (GRCm39)	missense	probably damaging	1.00
X0061:Insig2	UTSW	1	121,234,692 (GRCm39)	missense	probably damaging	0.99
X0066:Insig2	UTSW	1	121,233,678 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACACTGCATGGCCTCAGCTTAC -3'
(R):5'- TGATGGCTCCTTAGCACTGGTCTC -3'

Sequencing Primer
(F):5'- TACCATTGCCAGTTGACGG -3'
(R):5'- CCTTAGCACTGGTCTCAGAAAGTAG -3'

Posted On

2014-03-14